Results
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Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers. [electronic resource] by
- El Chehadeh, S
- Bonnet, C
- Callier, P
- Béri, M
- Dupré, T
- Payet, M
- Ragon, C
- Mosca-Boidron, A L
- Marle, N
- Mugneret, F
- Masurel-Paulet, A
- Thevenon, J
- Seta, N
- Duplomb, L
- Jonveaux, P
- Faivre, L
- Thauvin-Robinet, C
Producer: 20150327
In:
JIMD reports vol. 20
Availability: No items available.
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Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials. [electronic resource] by
- Mazzuca, Michel
- Maubert, Marie-Anne
- Damaj, Léna
- Clot, Fabienne
- Cadoudal, Marylène
- Dubourg, Christele
- Odent, Sylvie
- Benoit, Jean François
- Bahi-Buisson, Nadia
- Christa, Laurence
- de Lonlay, Pascale
Producer: 20150701
In:
JIMD reports vol. 22
Availability: No items available.
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50.
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Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype. [electronic resource] by
- Reunert, J
- Lotz-Havla, A S
- Polo, G
- Kannenberg, F
- Fobker, M
- Griese, M
- Mengel, E
- Muntau, A C
- Schnabel, P
- Sommerburg, O
- Borggraefe, I
- Dardis, A
- Burlina, A P
- Mall, M A
- Ciana, G
- Bembi, B
- Burlina, A B
- Marquardt, T
Producer: 20150630
In:
JIMD reports vol. 23
Availability: No items available.
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Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. [electronic resource] by
- Diekman, Eugène F
- Boelen, Carolien C A
- Prinsen, Berthil H C M T
- Ijlst, Lodewijk
- Duran, Marinus
- de Koning, Tom J
- Waterham, Hans R
- Wanders, Ronald J A
- Wijburg, Frits A
- Visser, Gepke
Producer: 20130225
In:
JIMD reports vol. 7
Availability: No items available.
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5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes. [electronic resource] by
- Calpena, Eduardo
- Casado, Mercedes
- Martínez-Rubio, Dolores
- Nascimento, Andrés
- Colomer, Jaume
- Gargallo, Eva
- García-Cazorla, Angels
- Palau, Francesc
- Artuch, Rafael
- Espinós, Carmen
Producer: 20130225
In:
JIMD reports vol. 7
Availability: No items available.
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56.
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The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity. [electronic resource] by
- Rhein, Cosima
- Naumann, Julia
- Mühle, Christiane
- Zill, Peter
- Adli, Mazda
- Hegerl, Ulrich
- Hiemke, Christoph
- Mergl, Roland
- Möller, Hans-Jürgen
- Reichel, Martin
- Kornhuber, Johannes
Producer: 20130225
In:
JIMD reports vol. 8
Availability: No items available.
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